Canonical Allele Identifier: CA1979443749

Gene: EFEMP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.65868300A= , CM000673.2:g.65868300A=	GRCh38
NC_000011.9:g.65635771A= , CM000673.1:g.65635771A=	GRCh37
NC_000011.8:g.65392347A=	NCBI36
NG_012304.2:g.9635T=
NG_053116.1:g.13239A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307998.11:c.969T= MANE Select	ENSP00000309953.6:p.Ser323=
ENST00000307998.10:c.969T=	ENSP00000309953.6:p.Ser323=
ENST00000525392.1:n.130T=
ENST00000526628.5:n.1535T=
ENST00000528176.5:c.969T=	ENSP00000434151.1:p.Ser323=
ENST00000528409.1:n.207+6T=
ENST00000530806.5:c.-30T=	ENSP00000436526.1:n.-30T=
ENST00000531005.5:n.1963T=
ENST00000531645.5:c.117T=	ENSP00000436521.1:p.Ser39=
ENST00000531972.5:c.969T=	ENSP00000435295.1:p.Ser323=
ENST00000532084.5:n.395T=
NM_016938.4:c.969T=	NP_058634.4:p.Ser323=
NR_037718.1:n.1228T=
NM_016938.5:c.969T= MANE Select	NP_058634.4:p.Ser323=
NR_037718.2:n.1094T=